Vitamin B 6 –responsive epilepsy due to inherited GPI deficiency
- 15 October 2013
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 81 (16), 1467-1469
- https://doi.org/10.1212/wnl.0b013e3182a8411a
Abstract
Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors many proteins to the cell surface. There are at least 26 genes involved in the biosynthesis of GPI-anchored proteins (GPI-APs).1 Recently, many inherited GPI deficiencies (IGDs) were found using whole-exome sequencing.2–4 The major symptoms of IGDs include mental retardation, epilepsy, coarse facial features, and multiple organ anomalies that vary in severity depending upon the degree of defect and/or position in the pathway of the affected gene. We clarified a mechanism of hyperphosphatasia, an elevated release of tissue-nonspecific alkaline phosphatase (TNAP, GPI-AP), seen in some of the patients with IGDs such as hyperphosphatasia mental retardation syndrome or Mabry syndrome caused by mutation in genes in the later stage of GPI biosynthesis.5This publication has 7 references indexed in Scilit:
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- Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental RetardationAmerican Journal of Human Genetics, 2012
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- Mice lacking tissue non–specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B–6Nature Genetics, 1995